Incidental Mutation 'R7724:Adarb2'
| ID |
595415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adarb2
|
| Ensembl Gene |
ENSMUSG00000052551 |
| Gene Name |
adenosine deaminase, RNA-specific, B2 |
| Synonyms |
RED2, Adar3 |
| MMRRC Submission |
045780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
8252902-8818783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 8620292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 259
(H259Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064473]
[ENSMUST00000123187]
[ENSMUST00000135574]
|
| AlphaFold |
Q9JI20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064473
AA Change: H259Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: H259Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
1.03e-16 |
SMART |
|
DSRM
|
284 |
346 |
1.24e-15 |
SMART |
|
ADEAMc
|
366 |
742 |
5.41e-211 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123187
AA Change: H259Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: H259Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
6.1e-19 |
SMART |
|
DSRM
|
284 |
346 |
7.3e-18 |
SMART |
|
ADEAMc
|
366 |
698 |
2e-164 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135574
AA Change: H259Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: H259Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
1.03e-16 |
SMART |
|
DSRM
|
284 |
346 |
1.24e-15 |
SMART |
|
ADEAMc
|
366 |
742 |
5.41e-211 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
C |
15: 57,885,857 (GRCm39) |
S342A |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,682,289 (GRCm39) |
I150N |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,567 (GRCm39) |
I75N |
probably damaging |
Het |
| Arhgef17 |
C |
T |
7: 100,529,816 (GRCm39) |
G480S |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,604,060 (GRCm39) |
Y208H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,813 (GRCm39) |
N1168Y |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,686 (GRCm39) |
N148D |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,593,700 (GRCm39) |
D765Y |
probably damaging |
Het |
| Celf4 |
C |
T |
18: 25,619,850 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
G |
A |
10: 41,621,838 (GRCm39) |
T26M |
possibly damaging |
Het |
| Ces2g |
T |
A |
8: 105,693,484 (GRCm39) |
D388E |
probably benign |
Het |
| Cir1 |
T |
C |
2: 73,137,234 (GRCm39) |
N69S |
possibly damaging |
Het |
| Ctc1 |
C |
A |
11: 68,917,170 (GRCm39) |
H355N |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,661,489 (GRCm39) |
K539M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,175,622 (GRCm39) |
G1697E |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,936,432 (GRCm39) |
D76G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,642,894 (GRCm39) |
S1786T |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,229,888 (GRCm39) |
E18D |
probably damaging |
Het |
| Gbp8 |
A |
T |
5: 105,179,160 (GRCm39) |
I113N |
probably damaging |
Het |
| Gm10549 |
A |
T |
18: 33,603,912 (GRCm39) |
R132* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,893,074 (GRCm39) |
D126E |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,472,074 (GRCm39) |
Y472H |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,789 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,230,323 (GRCm39) |
N187S |
unknown |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,405 (GRCm39) |
K351E |
probably benign |
Het |
| Klhl23 |
A |
G |
2: 69,655,056 (GRCm39) |
T309A |
probably benign |
Het |
| Ldhal6b |
A |
G |
17: 5,468,877 (GRCm39) |
V19A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,534,170 (GRCm39) |
R243C |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,243 (GRCm39) |
I1158R |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,833 (GRCm39) |
Y613N |
probably damaging |
Het |
| Myoc |
T |
A |
1: 162,467,396 (GRCm39) |
|
probably null |
Het |
| Npas3 |
C |
A |
12: 54,115,124 (GRCm39) |
S682Y |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,274,887 (GRCm39) |
V172A |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,208 (GRCm39) |
H179Q |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,735,470 (GRCm39) |
C243* |
probably null |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,459 (GRCm39) |
Y52H |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,338,949 (GRCm39) |
T49A |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,775 (GRCm39) |
S32T |
possibly damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,436 (GRCm39) |
I331F |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,937 (GRCm39) |
T348S |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,746 (GRCm39) |
E185G |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,600,576 (GRCm39) |
K200E |
possibly damaging |
Het |
| Sema6c |
A |
T |
3: 95,080,510 (GRCm39) |
R935W |
probably damaging |
Het |
| Serpinb5 |
A |
T |
1: 106,802,872 (GRCm39) |
I136F |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,622,289 (GRCm39) |
Y31* |
probably null |
Het |
| St6galnac1 |
C |
T |
11: 116,656,898 (GRCm39) |
|
probably null |
Het |
| Synj1 |
G |
A |
16: 90,758,387 (GRCm39) |
T819M |
probably damaging |
Het |
| Tacr3 |
T |
A |
3: 134,635,669 (GRCm39) |
V291E |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,875,390 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 34,036,291 (GRCm39) |
D72E |
possibly damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,727 (GRCm39) |
T438A |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,187 (GRCm39) |
T525A |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,940,270 (GRCm39) |
C384S |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,170 (GRCm39) |
D290G |
probably benign |
Het |
| Zfp541 |
T |
C |
7: 15,805,919 (GRCm39) |
L18P |
probably damaging |
Het |
|
| Other mutations in Adarb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Adarb2
|
APN |
13 |
8,751,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00910:Adarb2
|
APN |
13 |
8,722,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Adarb2
|
APN |
13 |
8,253,329 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01337:Adarb2
|
APN |
13 |
8,620,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01508:Adarb2
|
APN |
13 |
8,802,606 (GRCm39) |
splice site |
probably null |
|
|
IGL01792:Adarb2
|
APN |
13 |
8,620,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Adarb2
|
APN |
13 |
8,619,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Adarb2
|
APN |
13 |
8,619,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0304:Adarb2
|
UTSW |
13 |
8,802,606 (GRCm39) |
splice site |
probably benign |
|
|
R0463:Adarb2
|
UTSW |
13 |
8,253,224 (GRCm39) |
start gained |
probably benign |
|
|
R0646:Adarb2
|
UTSW |
13 |
8,781,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Adarb2
|
UTSW |
13 |
8,722,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Adarb2
|
UTSW |
13 |
8,807,359 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1451:Adarb2
|
UTSW |
13 |
8,389,657 (GRCm39) |
intron |
probably benign |
|
|
R1656:Adarb2
|
UTSW |
13 |
8,253,287 (GRCm39) |
missense |
unknown |
|
|
R1939:Adarb2
|
UTSW |
13 |
8,253,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2212:Adarb2
|
UTSW |
13 |
8,802,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Adarb2
|
UTSW |
13 |
8,619,810 (GRCm39) |
nonsense |
probably null |
|
|
R2993:Adarb2
|
UTSW |
13 |
8,763,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3157:Adarb2
|
UTSW |
13 |
8,747,669 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3177:Adarb2
|
UTSW |
13 |
8,802,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Adarb2
|
UTSW |
13 |
8,802,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3412:Adarb2
|
UTSW |
13 |
8,802,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Adarb2
|
UTSW |
13 |
8,620,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4505:Adarb2
|
UTSW |
13 |
8,747,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5232:Adarb2
|
UTSW |
13 |
8,763,676 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5831:Adarb2
|
UTSW |
13 |
8,609,169 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7113:Adarb2
|
UTSW |
13 |
8,781,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7252:Adarb2
|
UTSW |
13 |
8,620,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Adarb2
|
UTSW |
13 |
8,620,288 (GRCm39) |
missense |
probably benign |
|
|
R7346:Adarb2
|
UTSW |
13 |
8,620,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Adarb2
|
UTSW |
13 |
8,807,313 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7733:Adarb2
|
UTSW |
13 |
8,802,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7749:Adarb2
|
UTSW |
13 |
8,619,775 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8683:Adarb2
|
UTSW |
13 |
8,807,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Adarb2
|
UTSW |
13 |
8,802,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8981:Adarb2
|
UTSW |
13 |
8,751,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Adarb2
|
UTSW |
13 |
8,807,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Adarb2
|
UTSW |
13 |
8,619,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adarb2
|
UTSW |
13 |
8,620,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATGGCCCTGAAGTCC -3'
(R):5'- CAGCCATGACAAAGCTCTTGAC -3'
Sequencing Primer
(F):5'- AAATGGCCCTGAAGTCCTTTGTG -3'
(R):5'- CATGACAAAGCTCTTGACTCGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation